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Oocyte maturation defect 13(OZEMA13)

MedGen UID:
1824041
•Concept ID:
C5774268
•
Disease or Syndrome
Synonyms: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13; OZEMA13
 
Gene (location): ZFP36L2 (2p21)
 
Monarch Initiative: MONDO:0859330
OMIM®: 620154

Definition

Oocyte/zygote/embryo maturation arrest-13 (OZEMA13) is characterized by female infertility due to recurrent preimplantation embryonic arrest (Zheng et al., 2022). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

Clinical features

From HPO
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature
Repeated implantation failure
MedGen UID:
1779076
•Concept ID:
C5539773
•
Finding
Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
Lower risk for Down syndrome associated with longer oral contraceptive use: a case-control study of women of advanced maternal age presenting for prenatal diagnosis.
Nagy GR, Győrffy B, Nagy B, Rigó J Jr
Contraception 2013 Apr;87(4):455-8. Epub 2012 Oct 4 doi: 10.1016/j.contraception.2012.08.040. PMID: 23040130

Recent clinical studies

Etiology

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Reproductive Outcome After GnRH Agonist Triggering With Co-Administration of 1500 IU hCG on the Day of Oocyte Retrieval in High Responders: A Long-Term Retrospective Cohort Study.
Abdulkhalikova D, Bokal EV, Stimpfel M, Ciglar P, Korosec S
Front Endocrinol (Lausanne) 2022;13:826411. Epub 2022 Apr 6 doi: 10.3389/fendo.2022.826411. PMID: 35464066Free PMC Article
Chromosomal abnormalities in oocytes.
Plachot M
Mol Cell Endocrinol 2001 Oct 22;183 Suppl 1:S59-63. doi: 10.1016/s0303-7207(01)00577-9. PMID: 11576735
The human oocyte. Genetic aspects.
Plachot M
Ann Genet 1997;40(2):115-20. PMID: 9259959
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

Diagnosis

Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
Genetic analysis of the oocyte--a review.
Plachot M
Placenta 2003 Oct;24 Suppl B:S66-9. doi: 10.1016/s0143-4004(03)00143-7. PMID: 14559033
Chromosomal abnormalities in oocytes.
Plachot M
Mol Cell Endocrinol 2001 Oct 22;183 Suppl 1:S59-63. doi: 10.1016/s0303-7207(01)00577-9. PMID: 11576735
The human oocyte. Genetic aspects.
Plachot M
Ann Genet 1997;40(2):115-20. PMID: 9259959
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

Therapy

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Pregnancy after mumps: a case report.
Shahabi P, Asadzadeh S, Bannazadeh Baghi H, Sadeghzadeh Oskouei B
J Med Case Rep 2019 Dec 22;13(1):379. doi: 10.1186/s13256-019-2271-9. PMID: 31864420Free PMC Article
Embryological, clinical and ultrastructural study of human oocytes presenting indented zona pellucida.
Sousa M, Teixeira da Silva J, Silva J, Cunha M, Viana P, Oliveira E, Sá R, Soares C, Oliveira C, Barros A
Zygote 2015 Feb;23(1):145-57. Epub 2013 Sep 2 doi: 10.1017/S0967199413000403. PMID: 23992046
Metabolism and karyotype analysis of oocytes from patients with polycystic ovary syndrome.
Harris SE, Maruthini D, Tang T, Balen AH, Picton HM
Hum Reprod 2010 Sep;25(9):2305-15. Epub 2010 Jul 21 doi: 10.1093/humrep/deq181. PMID: 20659909
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

Prognosis

Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family.
Xing Q, Wang R, Chen B, Li L, Pan H, Li T, Ma X, Cao Y, Wang B
J Ovarian Res 2020 Apr 21;13(1):42. doi: 10.1186/s13048-020-00637-4. PMID: 32316999Free PMC Article
The neglected part of early embryonic development: maternal protein degradation.
Toralova T, Kinterova V, Chmelikova E, Kanka J
Cell Mol Life Sci 2020 Aug;77(16):3177-3194. Epub 2020 Feb 24 doi: 10.1007/s00018-020-03482-2. PMID: 32095869Free PMC Article
Novel phospholipase C zeta 1 mutations associated with fertilization failures after ICSI.
Torra-Massana M, Cornet-Bartolomé D, Barragán M, Durban M, Ferrer-Vaquer A, Zambelli F, Rodriguez A, Oliva R, Vassena R
Hum Reprod 2019 Aug 1;34(8):1494-1504. doi: 10.1093/humrep/dez094. PMID: 31347677
Predicting aneuploidy in human oocytes: key factors which affect the meiotic process.
Gianaroli L, Magli MC, Cavallini G, Crippa A, Capoti A, Resta S, Robles F, Ferraretti AP
Hum Reprod 2010 Sep;25(9):2374-86. Epub 2010 Jul 8 doi: 10.1093/humrep/deq123. PMID: 20616356Free PMC Article
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

Clinical prediction guides

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Reproductive Outcome After GnRH Agonist Triggering With Co-Administration of 1500 IU hCG on the Day of Oocyte Retrieval in High Responders: A Long-Term Retrospective Cohort Study.
Abdulkhalikova D, Bokal EV, Stimpfel M, Ciglar P, Korosec S
Front Endocrinol (Lausanne) 2022;13:826411. Epub 2022 Apr 6 doi: 10.3389/fendo.2022.826411. PMID: 35464066Free PMC Article
Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family.
Xing Q, Wang R, Chen B, Li L, Pan H, Li T, Ma X, Cao Y, Wang B
J Ovarian Res 2020 Apr 21;13(1):42. doi: 10.1186/s13048-020-00637-4. PMID: 32316999Free PMC Article
Effect of GnRH analogues for pituitary suppression on oocyte morphology in repeated ovarian stimulation cycles.
Zanetti BF, Braga DPAF, Setti AS, Iaconelli A Jr, Borges E Jr
JBRA Assist Reprod 2020 Jan 30;24(1):24-29. doi: 10.5935/1518-0557.20190050. PMID: 31436072Free PMC Article
Novel phospholipase C zeta 1 mutations associated with fertilization failures after ICSI.
Torra-Massana M, Cornet-Bartolomé D, Barragán M, Durban M, Ferrer-Vaquer A, Zambelli F, Rodriguez A, Oliva R, Vassena R
Hum Reprod 2019 Aug 1;34(8):1494-1504. doi: 10.1093/humrep/dez094. PMID: 31347677

Recent systematic reviews

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Effect of COVID-19 vaccination on the outcome of in vitro fertilization: A systematic review and meta-analysis.
Zhang L, Sun X, Wang R, Ma F
Front Public Health 2023;11:1151999. Epub 2023 Apr 3 doi: 10.3389/fpubh.2023.1151999. PMID: 37077193Free PMC Article

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